| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.14625901dup | CA213043 | C12orf60,GUCY2C | c.2270dup (p.Asn757LysfsTer2) c.2024dup (p.Asn675LysfsTer2) n.700+5985dup | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.14625901del | CA478710060 | C12orf60,GUCY2C | c.2270del (p.Asn757MetfsTer8) c.2024del (p.Asn675MetfsTer8) n.700+5985del | dbSNP gnomAD v2 gnomAD v4 COSMIC |